LHCGR (luteinizing hormone/choriogonadotropin receptor)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3973
Gene name Gene Name - the full gene name approved by the HGNC.
Luteinizing hormone/choriogonadotropin receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LHCGR
Synonyms (NCBI Gene) Gene synonyms aliases
HHG, LCGR, LGR2, LH/CG-R, LH/CGR, LHR, LHRHR, LSH-R, ULG5
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p16.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene resul
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(29)
miRTarBase ID miRNA Experiments Reference
MIRT019289 hsa-miR-148b-3p Microarray 17612493
MIRT437925 hsa-miR-513a-3p qRT-PCR, Luciferase reporter assay 24747085
MIRT437925 hsa-miR-513a-3p qRT-PCR, Luciferase reporter assay 24747085
MIRT437925 hsa-miR-513a-3p qRT-PCR, Luciferase reporter assay 24747085
MIRT437925 hsa-miR-513a-3p qRT-PCR, Luciferase reporter assay 24747085
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
NR2C2 Activation 11682620
NR2F1 Repression 11682620
NR2F6 Repression 11682620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(53)
GO ID Ontology Definition Evidence Reference
GO:0001541 Process Ovarian follicle development IBA
GO:0001541 Process Ovarian follicle development IEA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004964 Function Luteinizing hormone receptor activity IBA
GO:0004964 Function Luteinizing hormone receptor activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
152790 6585 ENSG00000138039
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P22888
Protein name Lutropin-choriogonadotropic hormone receptor (LH/CG-R) (Luteinizing hormone receptor) (LHR) (LSH-R)
Protein function Receptor for lutropin-choriogonadotropic hormone (PubMed:11847099). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099).
PDB 7FIG , 7FIH , 7FII , 7FIJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13306 LRR_5 49 → 149 BspA type Leucine rich repeat region (6 copies) Repeat
PF13306 LRR_5 141 → 267 BspA type Leucine rich repeat region (6 copies) Repeat
PF00001 7tm_1 376 → 623 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Gonadal and thyroid cells.
Sequence 
MKQRFSALQLLKLLLLLQPPLPRALREALCPEPCNCVPDGALRCPGPTAGLTRLSLAYLP
VKVIPSQAFRGLNEVIKIEISQIDSLERIEANAFDNLLNLSEILIQNTKNLRYIEPGAFI
NLPRLKYLSICNTGIRKFPDVTKVFSSESNFILEICDNLHITTIPGNAFQGMNNESVTLK
LYGNGFEEVQSHAFNGTTLTSLELKENVHLEKMHNGAFRGATGPKTLDISSTKLQALPSY
GLESIQRLIATSSYSLKKLPSRETFVNLLEATLTYPSHCCAFRNLPTKEQNFSHSISENF
SKQCESTVRKVNNKTLYSSMLAESELSGWDYEYGFCLPKTPRCAPEPDAFNPCEDIMGYD
FLRVLIWLINILAIMGNMTVLFVLLTSRYKLTVPRFLMCNLSFADFCMGLYLLLIASVDS
QTKGQYYNHAIDWQTGSGCSTAGFFTVFASELSVYTLTVITLERWHTITYAIHLDQKLRL
RHAILIMLGGWLFSSLIAMLPLVGVSNYMKVSICFPMDVETTLSQVYILTILILNVVAFF
IICACYIKIYFAVRNPELMATNKDTKIAKKMAILIFTDFTCMAPISFFAISAAFKVPLIT
VTNSKVLLVLFYPINSCANPFLYAIFTKTFQRDFFLLLSKFGCCKRRAELYRRKDFSAYT
SNCKNGFTGSNKPSQSTLKLSTLHCQGTALLDKTRYTEC
Sequence length 699
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Calcium signaling pathway
cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Ovarian steroidogenesis
Prolactin signaling pathway 		  Hormone ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Leydig Cell Agenesis leydig cell agenesis rs1572874955, rs71245621, rs121912537, rs121912536, rs121912520, rs121912538, rs121912523, rs121912539, rs121912524, rs144859947, rs121912525, rs773279269, rs121912529, rs1553387851, rs2104352652
View all (1 more)		 N/A
Leydig Cell Hypoplasia Leydig cell hypoplasia, type II rs121912530, rs121912527 N/A
Pseudohermaphroditism pseudohermaphroditism rs750481017 N/A
Somatic Leydig Cell Adenoma With Male-Limited Precocious Puberty leydig cell adenoma, somatic, with male-limited precocious puberty rs121912532 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypogonadotropic Hypogonadism Hypergonadotropic hypogonadism N/A N/A ClinVar
Male-Limited Precocious Puberty familial male-limited precocious puberty N/A N/A GenCC
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Polycystic Ovary Syndrome Polycystic ovary syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (62)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 22369774
Acth Independent Macronodular Adrenal Hyperplasia Associate 29183089
Adenoma Associate 21490077
Adrenal Cortex Diseases Associate 30924919
Adrenal Cortex Neoplasms Associate 30924919
Adrenal Gland Diseases Associate 29183089
Adrenal Gland Neoplasms Associate 12519858
Adrenocortical Carcinoma Associate 30924919
Alzheimer Disease Associate 18439297
Alzheimer Disease Inhibit 18439297